LDLR truncating variants in ExAC

LDLR gene summary
LDLR variants in

The table below lists the LDLR truncating variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 11240210 c.2411_2412insG p.Val806GlyfsTer11 frameshift 0.00004121●●●●●●
2. 11213463 c.313+1G>A essential splice site 0.00004118●●●●●●
3. 11216011 c.429C>A p.C143X nonsense 0.00002481●●●●●●
4. 11216264 c.682G>T p.E228X nonsense 0.00001709●●●●●●
5. 11215995 c.413C>G p.S138X nonsense 0.00001655●●●●●●
6. 11216000 c.418G>T p.E140X nonsense 0.00001655●●●●●●
7. 11210928 c.97C>T p.Q33X nonsense 0.00001651●●●●●●
8. 11200238 c.14_15insCTTTC p.Trp6PhefsTer202 frameshift 0.00000871●●●●●●
9. 11234017 c.2308C>T p.Q770X nonsense 0.00000859●●●●●●
10. 11224439 c.1586+1G>A essential splice site 0.00000843●●●●●●
11. 11216248 c.666C>A p.C222X nonsense 0.00000842●●●●●●
12. 11222317 c.1186+2T>G essential splice site 0.00000840●●●●●●
13. 11215918 c.336_337insG p.Glu113GlyfsTer17 frameshift 0.00000837●●●●●●
14. 11222305 c.1176C>A p.C392X nonsense 0.00000835●●●●●●
15. 11224024 c.1257C>G p.Y419X nonsense 0.00000828●●●●●●
16. 11224127 c.1358+2T>A essential splice site 0.00000828●●●●●●
17. 11224126 c.1358+1G>A essential splice site 0.00000828●●●●●●
18. 11221432 c.1045C>T p.Q349X nonsense 0.00000827●●●●●●
19. 11221435 c.1048C>T p.R350X nonsense 0.00000827●●●●●●
20. 11231118 c.2060_2061insC p.N688Qfs*32 frameshift 0.00000826●●●●●●
21. 11231101 c.2043C>A p.C681X nonsense 0.00000826●●●●●●
22. 11216047 c.465C>A p.C155X nonsense 0.00000826●●●●●●
23. 11216102 c.520G>T p.E174X nonsense 0.00000826●●●●●●
24. 11240187 c.2390-2A>G essential splice site 0.00000825●●●●●●
25. 11224319 c.1467C>G p.Y489X nonsense 0.00000825●●●●●●
26. 11226781 c.1598G>A p.W533X nonsense 0.00000825●●●●●●
27. 11227676 c.1845+2T>C essential splice site 0.00000824●●●●●●
28. 11213453 c.304C>T p.Q102X nonsense 0.00000824●●●●●●
29. 11218165 c.915G>A p.W305X nonsense 0.00000824●●●●●●
30. 11213360 c.211delG p.Asp72ThrfsTer134 frameshift 0.00000824●●●●●●
31. 11230874 c.1952_1953delAT p.Met652GlyfsTer16 frameshift 0.00000824●●●●●●
32. 11238694 c.2322delC p.D774Efs*14 frameshift 0.00000824●●●●●●
33. 11213463 c.313+1G>T essential splice site 0.00000824●●●●●●
34. 11213445 c.296C>G p.S99X nonsense 0.00000824●●●●●●
35. 11238707 c.2335delG p.Gly779GlufsTer9 frameshift 0.00000824●●●●●●
36. 11218070 c.820delA frameshift 0.00000824●●●●●●
37. 11218136 c.886_887insA p.Cys296Ter frameshift 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.